Search on: HAMARTOMA SYNDROME, MULTIPLE 
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Descriptor English:   Hamartoma Syndrome, Multiple 
Descriptor Spanish:   Síndrome de Hamartoma Múltiple 
Descriptor Portuguese:   Síndrome do Hamartoma Múltiplo 
Synonyms English:   Bannayan-Ruvalcaba-Riley Syndrome
Bannayan-Zonana Syndrome
Cowden Syndrome
Cowden's Syndrome
Dysplastic Gangliocytoma of Cerebellum
Dysplastic Gangliocytoma of the Cerebellum
Macrocephaly, Multiple Lipomas, and Hemangiomata
Macrocephaly, Pseudopapilledema, and Multiple Hemangiomas
Macrocephaly, Pseudopapilledema, and Multiple Hemangiomata
Myhre-Riley-Smith Syndrome
Riley-Smith Syndrome
Ruvalcaba-Myhre Syndrome
Ruvalcaba-Myhre-Smith Syndrome
Bannayan Riley Ruvalcaba Syndrome
Bannayan Zonana Syndrome
Cerebellum Dysplastic Gangliocytoma
Cerebellum Dysplastic Gangliocytomas
Cowdens Disease
Cowdens Syndrome
Hamartoma Syndromes, Multiple
Lhermitte Duclos Disease
Multiple Hamartoma Syndromes
Myhre Riley Smith Syndrome
Riley Smith Syndrome
Ruvalcaba Myhre Smith Syndrome
Bannayan-Riley-Ruvalcaba Syndrome
Cowden Disease
Cowden's Disease
Lhermitte-Duclos Disease
Multiple Hamartoma Syndrome
PTEN Hamartoma Tumor Syndrome  
Tree Number:   C04.445.435
C04.651.435
C04.700.435
C16.320.700.435
Definition English:   A hereditary disease characterized by multiple ectodermal, mesodermal, and endodermal nevoid and neoplastic anomalies. Facial trichilemmomas and papillomatous papules of the oral mucosa are the most characteristic lesions. Individuals with this syndrome have a high risk of BREAST CANCER; THYROID CANCER; and ENDOMETRIAL CANCER. This syndrome is associated with mutations in the gene for PTEN PHOSPHATASE. 
History Note English:   91(87); was see under NEOPLASMS, MULTIPLE PRIMARY 1987-90 
Allowable Qualifiers English:  
BL blood CF cerebrospinal fluid
CI chemically induced CL classification
CO complications CN congenital
DI diagnosis DG diagnostic imaging
DH diet therapy DT drug therapy
EC economics EM embryology
EN enzymology EP epidemiology
EH ethnology ET etiology
GE genetics HI history
IM immunology ME metabolism
MI microbiology MO mortality
NU nursing PS parasitology
PA pathology PP physiopathology
PC prevention & control PX psychology
RT radiotherapy RH rehabilitation
SU surgery TH therapy
UR urine VE veterinary
VI virology  
Record Number:   19179 
Unique Identifier:   D006223 

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